peroxisome biogenesis disorder 6A (Zellweger)
MONDO:0013936Mondo
Findings
No curated finding names peroxisome biogenesis disorder 6A (Zellweger) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Renal cystHPOHP:0000107
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PEX10HGNC:8851
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Strong · Ambry Genetics · Autosomal recessive · 2018